Full data view for gene TSC1

Information The variants shown are described using the transcript reference sequence.

198 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-44G>A r.(=) p.(=) Parent #2 g.135804303C>T - TSC1_000034 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Messolonghi Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 BladCa, CRC, PrCa, SIC, SkCa - M Asia Minor - Greek no - 2 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 BrCa - F Nea Koutali, Lemnos Kallithea, Lemnos Greek no - 3 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 CRC, GaPol - F Chania, Crete Euboea Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 CRC - M Ilia - Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Grammatiko, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 BrCa - F Drama Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 OVCA - F Symi Leros Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 BrCa - F Crete Paiania Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 CMM3 - F Athens - Greek no - 2 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 CAL - F - - Greek no - 2 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 CAL, NF, SRCM - M - - Greek no - 3 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 PrCa - M Katerini - Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 ADNM, AML, HypPT, RCC, TRC - M Triantafyllia, Serres Pontus Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 OVCA - F Armenia Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 OVCA - F Ioannina Rethimno Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 CRC, OVCA - F Greeks of Russia - Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 BrCa - F Levidi, Arcadia Asea, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 BrCa - F Lechaina, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 OVCA - F Pontus (Kazakhstan) - Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 BrCa - F Mani Milos Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 OVCA - F Syros Germany Greek no - 1 Despoina Kalfakakou
./. - c.-7C>T r.(=) p.(=) Parent #2 g.135804266G>A - TSC1_000005 rs62621221 - - - DNA SEQ-NG-I 1 OVCA - F Komnina, Phthiotis Chania Greek no - 1 Despoina Kalfakakou
./. - c.45C>T r.(=) p.(=) Parent #2 g.135804215G>A - TSC1_000058 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.106+47A>C r.(=) p.(=) Parent #2 g.135804107T>G - TSC1_000035 - - - - DNA SEQ-NG-I 1 BrCa - F Dominican Republic Armenia Greek no - 1 Despoina Kalfakakou
./. - c.106+47A>C r.(=) p.(=) Parent #2 g.135804107T>G - TSC1_000035 - - - - DNA SEQ-NG-I 1 BrainCa - M Orestiada - Greek no - 1 Despoina Kalfakakou
./. - c.147C>G r.(?) p.(Tyr49*) Parent #2 g.135802651G>C - TSC1_000057 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.250G>A r.(?) p.(Ala84Thr) Parent #2 g.135801087C>T - TSC1_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus - Greek no - 1 Despoina Kalfakakou
./. - c.273G>A r.(=) p.(=) Parent #2 g.135801064C>T - TSC1_000029 - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
./. - c.291A>G r.(?) p.(Ile97Met) Parent #2 g.135801046T>C - TSC1_000036 - - - - DNA SEQ-NG-I 1 BrCa - F Evia - Greek no - 1 Despoina Kalfakakou
./. - c.346T>G r.(?) p.(Leu116Val) Parent #2 g.135800991A>C - TSC1_000044 - - - - DNA SEQ-NG-I 1 BrCa - F Temenia, Chania - Greek no - 1 Despoina Kalfakakou
./. - c.346T>G r.(?) p.(Leu116Val) Parent #2 g.135800991A>C - TSC1_000044 - - - - DNA SEQ-NG-I 1 OVCA - F Kalymnos - Greek no - 1 Despoina Kalfakakou
./. - c.346T>G r.(?) p.(Leu116Val) Parent #2 g.135800991A>C - TSC1_000044 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Gytheio Greek no - 1 Despoina Kalfakakou
./. - c.364-50C>T r.(=) p.(=) Parent #2 g.135798929G>A - TSC1_000062 - - - - DNA SEQ-NG-I 1 PGL2, Pheo - F Milies, Euboea Krioneritis, Euboea Greek no - 1 Despoina Kalfakakou
./. - c.364-29C>T r.(=) p.(=) Parent #2 g.135798908G>A - TSC1_000068 - - - - DNA SEQ-NG-I 1 BrainCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.364-14C>A r.(=) p.(=) Parent #2 g.135798893G>T - TSC1_000008 - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 1 Despoina Kalfakakou
./. - c.518C>T r.(?) p.(Ala173Val) Parent #2 g.135797351G>A - TSC1_000047 - - - - DNA SEQ-NG-I 1 BrCa - F Ithomi, Karditsa Emmanouil Pappas, Serres Greek no - 1 Despoina Kalfakakou
./. - c.518C>T r.(?) p.(Ala173Val) Parent #2 g.135797351G>A - TSC1_000047 - - - - DNA SEQ-NG-I 1 CHL, GLM3 - M Karystos, Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.518C>T r.(?) p.(Ala173Val) Parent #2 g.135797351G>A - TSC1_000047 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.518C>T r.(?) p.(Ala173Val) Parent #2 g.135797351G>A - TSC1_000047 - - - - DNA SEQ-NG-I 1 BrCa - F Kranidi, Argolis Liksouri, Kefalonia Greek no - 1 Despoina Kalfakakou
./. - c.518C>T r.(?) p.(Ala173Val) Parent #2 g.135797351G>A - TSC1_000047 - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) Parent #2 g.135797337C>T - TSC1_000003 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) Parent #2 g.135797337C>T - TSC1_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) Parent #2 g.135797337C>T - TSC1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Argos Nemea, Corinth Greek no - 3 Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) Parent #2 g.135797337C>T - TSC1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Lemnos - Greek no - 1 Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) Parent #2 g.135797337C>T - TSC1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Corfu Greek no - 1 Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) Parent #2 g.135797337C>T - TSC1_000003 - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Foufas, Kozani Drosero, Kozani Greek no - 1 Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) Parent #2 g.135797337C>T - TSC1_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Dafni, Kalavryta Athens Greek no - 2 Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) Parent #2 g.135797337C>T - TSC1_000003 - - - - DNA SEQ-NG-I 1 ColPol, CRC, OVCA - F Klisto, Evrytania - Greek no - 1 Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) Parent #2 g.135797337C>T - TSC1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Achaia - Greek no - 1 Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) Parent #2 g.135797337C>T - TSC1_000003 - - - - DNA SEQ-NG-I 1 WT1 - F Thiva Crete Greek no - 1 Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) Parent #2 g.135797337C>T - TSC1_000003 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.532G>A r.(?) p.(Val178Ile) Parent #2 g.135797337C>T - TSC1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.652_653insG r.(?) p.(Glu218Glyfs*24) Parent #2 g.135797216_135797217insC - TSC1_000056 - - - - DNA SEQ-NG-I 1 - - F Athens Pyrgos, Ilia Roma no - 1 Despoina Kalfakakou
./. - c.737+34T>G r.(=) p.(=) Parent #2 g.135796716A>C - TSC1_000019 - - - - DNA SEQ-NG-I 1 OVCA - F Kalabaka Trikala Greek no - 1 Despoina Kalfakakou
./. - c.851G>A r.(?) p.(Arg284His) Parent #2 g.135787731C>T - TSC1_000041 - - - - DNA SEQ-NG-I 1 BrCa, SkCa - F Izmir Kos Greek no - 1 Despoina Kalfakakou
./. - c.876C>T r.(=) p.(=) Parent #2 g.135787706G>A - TSC1_000031 - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
./. - c.914-14C>T r.(=) p.(=) Parent #2 g.135786969G>A - TSC1_000025 - - - - DNA SEQ-NG-I 1 BrCa - F Lemnos - Greek no - 1 Despoina Kalfakakou
./. - c.1001C>T r.(?) p.(Ser334Leu) Parent #2 g.135786868G>A - TSC1_000030 - - - - DNA SEQ-NG-I 1 ColPol - M Chania, Crete Kastellorizo Greek no - 1 Despoina Kalfakakou
./. - c.1001C>T r.(?) p.(Ser334Leu) Parent #2 g.135786868G>A - TSC1_000030 - - - - DNA SEQ-NG-I 1 ADNM, Polyposis - F Keramidia, Ilia Daphnoula, Ilia Greek no - 1 Despoina Kalfakakou
./. - c.1001C>T r.(?) p.(Ser334Leu) Parent #2 g.135786868G>A - TSC1_000030 - - - - DNA SEQ-NG-I 1 AGCa - F Athanasios Diakos, Phocis - Greek no - 1 Despoina Kalfakakou
./. - c.1002G>A r.(=) p.(=) Parent #2 g.135786867C>T - TSC1_000059 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1030-3C>T r.spl? p.? Parent #2 g.135786503G>A - TSC1_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Kavala - Greek no - 1 Despoina Kalfakakou
./. - c.1053_1054insTG r.(?) p.(Val352Trpfs*5) Parent #2 g.135786476_135786477insCA - TSC1_000061 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1209G>A r.(=) p.(=) Parent #2 g.135786012C>T - TSC1_000021 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) Parent #2 g.135785949_135785950insGAT - TSC1_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) Parent #2 g.135785949_135785950insGAT - TSC1_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Raveni, Thesprotia Anthrakitis, Zagorochoria, Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) Parent #2 g.135785949_135785950insGAT - TSC1_000020 - - - - DNA SEQ-NG-I 1 - - F Etolia-Akarnania Lasithi, Crete Greek no - 1 Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) Parent #2 g.135785949_135785950insGAT - TSC1_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Naousa Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) Parent #2 g.135785949_135785950insGAT - TSC1_000020 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) Parent #2 g.135785949_135785950insGAT - TSC1_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Katerini Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) Parent #2 g.135785949_135785950insGAT - TSC1_000020 - - - - DNA SEQ-NG-I 1 OVCA - F Stadio, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.1263+8_1263+9insATC r.(=) p.(=) Parent #2 g.135785949_135785950insGAT - TSC1_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.1263+37C>T r.(=) p.(=) Parent #2 g.135785921G>A - TSC1_000055 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.1264-47G>A r.(=) p.(=) Parent #2 g.135782804C>T - TSC1_000078 - - - - DNA SEQ-NG-I 1 BrCa - F Philippines - Filipino no - 1 Despoina Kalfakakou
./. - c.1264-9T>C r.(=) p.(=) Parent #2 g.135782766A>G - TSC1_000023 - - - - DNA SEQ-NG-I 1 ColPol, CRC, PrCa - M Lagkadia, Arcadia - Greek no - 4 Despoina Kalfakakou
./. - c.1296A>C r.(=) p.(=) Parent #2 g.135782725T>G - TSC1_000018 - - - - DNA SEQ-NG-I 1 BrCa - M Spetses Leonidio Greek no - 1 Despoina Kalfakakou
./. - c.1296A>C r.(=) p.(=) Parent #2 g.135782725T>G - TSC1_000018 - - - - DNA SEQ-NG-I 1 BrCa, UtPol - F Amfilochia Corinth Greek no - 1 Despoina Kalfakakou
./. - c.1302A>G r.(=) p.(=) Parent #2 g.135782719T>C - TSC1_000077 - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.1333+13C>T r.(=) p.(=) Parent #2 g.135782675G>A - TSC1_000072 - - - - DNA SEQ-NG-I 1 OVCA - F Gouves, Heraklion Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.1333+13C>T r.(=) p.(=) Parent #2 g.135782675G>A - TSC1_000072 - - - - DNA SEQ-NG-I 1 OVCA - F Katerini - Greek no - 1 Despoina Kalfakakou
./. - c.1438+44C>T r.(=) p.(=) Parent #2 g.135782074G>A - TSC1_000074 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.1439-21del r.(=) p.(=) Parent #2 g.135781547del - TSC1_000070 - - - - DNA SEQ-NG-I 1 BrCa - F Russia Patra Greek no - 1 Despoina Kalfakakou
./. - c.1589G>C r.(?) p.(Ser530Thr) Parent #2 g.135781376C>G - TSC1_000064 - - - - DNA SEQ-NG-I 1 - - F Corinthia Lesvos Greek no - 1 Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) Parent #2 g.135781317G>C - TSC1_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Portaria, Chalkidiki - Greek no - 1 Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) Parent #2 g.135781317G>C - TSC1_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Perigiali, Corinth Kavala Greek no - 3 Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) Parent #2 g.135781317G>C - TSC1_000007 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Kalavryta - Greek no - 1 Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) Parent #2 g.135781317G>C - TSC1_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Epirus Sparta Greek no - 1 Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) Parent #2 g.135781317G>C - TSC1_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Sofades, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) Parent #2 g.135781317G>C - TSC1_000007 - - - - DNA SEQ-NG-I 1 ENC - F Kyriaki, Boeotia - Greek no - 1 Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) Parent #2 g.135781317G>C - TSC1_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Larisa Grevena Greek no - 1 Despoina Kalfakakou
./. - c.1648C>G r.(?) p.(Gln550Glu) Parent #2 g.135781317G>C - TSC1_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Pella Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.1685C>G r.(?) p.(Ala562Gly) Parent #2 g.135781280G>C - TSC1_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotiko, Preveza Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.1700C>T r.(?) p.(Ala567Val) Parent #2 g.135781265G>A - TSC1_000040 - - - - DNA SEQ-NG-I 1 BrCa - F Pandrosos, Rodhope Sappes, Rodhope Greek no - 1 Despoina Kalfakakou
./. - c.1749C>T r.(=) p.(=) Parent #2 g.135781216G>A - TSC1_000066 - - - - DNA SEQ-NG-I 1 PGL2 - M Piraeus Smyrna, Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.1916G>T r.(?) p.(Gly639Val) Parent #2 g.135781049C>A - TSC1_000060 - - - - DNA SEQ-NG-I 1 Pheo - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.1936A>G r.(?) p.(Met646Val) Parent #2 g.135781029T>C - TSC1_000067 - - - - DNA SEQ-NG-I 1 CMM3, PNCA2, TRC - M Andronianos, Euboea Dendra, Euboea Greek no - 1 Despoina Kalfakakou
./. - c.1943T>C r.(?) p.(Val648Ala) Parent #2 g.135781022A>G - TSC1_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Argos Greek no - 2 Despoina Kalfakakou
Legend   « First ‹ Prev     1 2     Next › Last »